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OMIA 002149-9913 : Haplotype with homozygous deficiency HH6 in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive Lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Species-specific symbol: HH6

History: Fritz et al. (2018) "adopted the nomenclature HH6 . . . to acknowledge the previous discoveries and molecular characterizations of the HH1 [OMIA 000001-9913], HH3 [OMIA 001824-9913], HH4 [OMIA 001826-9913], and HH5 [OMIA 001941-9913] embryonic lethal mutations. The HH6 haplotype and HH6 mutation studied in this article should not be confused with the haplotype provisionally named HH6 in Fritz et al. (2013), which was actually associated with the mutation causing complex vertebral malformation" [OMIA 001340-9913].

Mapping: Using the homozygous haplotype deficiency strategy, Fritz et al. (2018) mapped an autosomal recessive embryonic lethal trait to a 1.1Mb region on chromosome BTA16.

Molecular basis: Within the mapped candidate region (see Mapping section), Fritz et al. (2018) identified a likely causal variant as "an A-to-G transition at position 29,773,628 bp on chromosome 16 (g.29773628A>G; rs434666183)". The authors explained that "This A-to-G transition changes the initiator ATG (methionine) codon to ACG because the gene is transcribed on the reverse strand. . . . Initiation of translation at the closest in-frame Met codon would truncate SDE2 by 83 amino acids, including an 8-amino acid motif conserved among eukaryotes".

Breed: Holstein.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SDE2 SDE2 telomere maintenance homolog (S. pombe) Bos taurus 16 NC_037343.1 (29020714..29005211) SDE2 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
990 Holstein Abortion due to haplotype HH6 SDE2 start-lost Naturally occurring variant ARS-UCD1.2 16 g.29020700A>G c.2T>C p.(M1?) ENSBTAT00000016992.6:c.2T>C ENSBTAP00000016992.5:p.Met1? "This A-to-G transition changes the initiator ATG (methionine) codon to ACG because the gene is transcribed on the reverse strand. . . . Initiation of translation at the closest in-frame Met codon would truncate SDE2 by 83 amino acids, including an 8-amino acid motif conserved among eukaryotes" rs434666183 rs434666183 2018 29680649
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Reference


2018 Fritz, S., Hoze, C., Rebours, E., Barbat, A., Bizard, M., Chamberlain, A., Escouflaire, C., Vander Jagt, C., Boussaha, M., Grohs, C., Allais-Bonnet, A., Philippe, M., Vallée, A., Amigues, Y., Hayes, B.J., Boichard, D., Capitan, A., Fritz, S., Hoze, C., Rebours, E., Barbat, A., Bizard, M., Chamberlain, A., Escouflaire, C., Vander Jagt, C., Boussaha, M., Grohs, C., Allais-Bonnet, A., Philippe, M., Vallée, A., Amigues, Y., Hayes, B.J., Boichard, D., Capitan, A. :
An initiator codon mutation in SDE2 causes recessive embryonic lethality in Holstein cattle. J Dairy Sci 101:6220-6231, 2018. Pubmed reference: 29680649. DOI: 10.3168/jds.2017-14119.

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  • Created by Frank Nicholas on 20 Apr 2018
  • Changed by Frank Nicholas on 20 Apr 2018